Canonical Allele Identifier: CA767864416

Gene: TTC27

Linked Data

• dbSNP Id: rs1339256542
• gnomAD v4: 2-32640466-A-C
• MyVariant Identifiers: chr2:g.32865533A>C (hg19) ; chr2:g.32640466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32640466A>C , CM000664.2:g.32640466A>C	GRCh38
NC_000002.11:g.32865533A>C , CM000664.1:g.32865533A>C	GRCh37
NC_000002.10:g.32719037A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317907.9:c.537+56A>C MANE Select	ENSP00000313953.4:n.537+56A>C
ENST00000647819.1:c.537+56A>C	ENSP00000497009.1:n.537+56A>C
ENST00000317907.8:c.537+56A>C	ENSP00000313953.4:n.537+56A>C
ENST00000454690.1:c.88+12086A>C	ENSP00000392883.1:n.88+12086A>C
NM_001193509.1:c.387+56A>C	NP_001180438.1:n.387+56A>C
NM_017735.4:c.537+56A>C	NP_060205.3:n.537+56A>C
XM_005264416.1:c.537+56A>C	XP_005264473.1:n.537+56A>C
XM_011532958.1:c.537+56A>C	XP_011531260.1:n.537+56A>C
XM_005264416.2:c.537+56A>C	XP_005264473.1:n.537+56A>C
XM_011532958.2:c.537+56A>C	XP_011531260.1:n.537+56A>C
XR_002959314.1:n.795+56A>C
NM_017735.5:c.537+56A>C MANE Select	NP_060205.3:n.537+56A>C
NM_001193509.2:c.387+56A>C	NP_001180438.1:n.387+56A>C